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List of works by Giuseppe Castaldo

A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta ⬇️

scientific article published on August 30, 2011

A mannose-binding lectin-defective haplotype is a risk factor for gastric cancer

scientific article published on 01 August 2006

A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: implications for recurrence risk and prenatal diagnosis

scientific article published on 27 June 2012

A novel polymorphism in the PAI-1 gene promoter enhances gene expression. A novel pro-thrombotic risk factor?

scientific article published on 28 September 2014

A novel promising therapeutic option against hepatitis C virus: an oral nucleotide NS5B polymerase inhibitor sofosbuvir

scientific article published on January 2013

A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients.

scientific article published on 16 November 2010

ABT-450: a novel protease inhibitor for the treatment of hepatitis C virus infection

scientific article published on January 2014

Aberrant F8 gene intron 1 inversion with concomitant duplication and deletion in a severe hemophilia A patient from Southern Italy.

scientific article published in January 2013

Activity of mannose-binding lectin in centenarians

scientific article

Adiponectin Expression Is Modulated by Long-Term Physical Activity in Adult Patients Affected by Cystic Fibrosis

scientific article published on 09 September 2019

An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study.

scientific article published on 20 May 2009

An update on laboratory diagnosis of liver inherited diseases.

scientific article published on 08 October 2013

Biological role of mannose binding lectin: From newborns to centenarians.

scientific article published on 14 March 2015

Brain derived neurotrophic factor (BDNF) genetic polymorphism (Val66Met) in suicide: a study of 512 cases.

scientific article published in June 2009

Carcinoembryonic antigen mRNA analysis detects micrometastatic cells in blood from lung cancer patients.

scientific article published in September 2003

Catechol-O-methyltransferase (COMT) gene polymorphisms as risk factor in temporomandibular disorders patients from Southern Italy

scientific article published on 01 February 2014

Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population

scientific article published on 01 January 2005

Congenital Diarrheal Disorders: An Updated Diagnostic Approach ⬇️

scientific article published on March 29, 2012

Congenital and acquired thrombotic risk factors in lymphoma patients bearing upper extremities deep venous thrombosis: a preliminary report

scientific article

Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.

scientific article published on April 2010

Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies

scientific article published on 17 March 2015

Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation

scientific article published on 01 June 2004

DNA methylation state of BDNF gene is not altered in prefrontal cortex and striatum of schizophrenia subjects

scientific article published on 28 August 2014

Daclatasvir: the first of a new class of drugs targeted against hepatitis C virus NS5A.

scientific article published on January 2014

Denaturing HPLC procedure for factor IX gene scanning.

scientific article published in May 2003

Design, synthesis and biochemical investigation, by in vitro luciferase reporter system, of peptide nucleic acids as new inhibitors of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression

article

Diagnostic efficiency in discriminating liver malignancies from cirrhosis by serum gamma-glutamyltransferase isoforms

scientific article published on 01 October 1988

Different outcome of six homozygotes for prothrombin A20210A gene variant

scientific article published on 15 July 2008

Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations

scientific article (publication date: May 2005)

Early pregnancy loss in celiac women: The role of genetic markers of thrombophilia

scientific article published on 22 April 2009

Editorial Comment to p.Leu636Pro mutation is associated with cystic fibrosis transmembrane conductance regulator-related disorders (congenital bilateral absence of vas deferens).

scientific article published on 25 May 2015

Enhanced frequency of CFTR gene variants in couples who are candidates for assisted reproductive technology treatment.

scientific article published on 17 June 2011

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study

article

Exploitation of a very small peptide nucleic acid as a new inhibitor of miR-509-3p involved in the regulation of cystic fibrosis disease-gene expression.

scientific article published on 15 April 2014

Extensive molecular analysis of patients bearing CFTR-related disorders.

scientific article

Fetuin-A serum levels are not correlated to kidney function in long-lived subjects

scientific article published on 9 March 2012

First Diagnosis of Hemophilia B in a Nonagenarian.

scientific article

Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.

scientific article

Gene mutation in microRNA target sites of CFTR gene: a novel pathogenetic mechanism in cystic fibrosis?

scientific article

Genetic diseases that predispose to early liver cirrhosis.

scientific article

Genetic modifiers of liver disease in cystic fibrosis

scientific article

Genetic prothrombotic risk factors in children with extrahepatic portal vein obstruction

scientific article published on 01 September 2010

Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea.

scientific article published on 19 December 2013

Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.

scientific article

Haemophilia A: molecular insights.

scientific article published on January 2007

Haemophilia B: from molecular diagnosis to gene therapy.

scientific article

Haplogroup T is an obesity risk factor: mitochondrial DNA haplotyping in a morbid obese population from southern Italy

scientific article published on 2 July 2013

Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A.

scientific article published on 23 January 2008

Identificazione e ruolo dell’Esperto in Emostasi e Trombosi nel Sistema Sanitario Nazionale Italiano

Impaired Ratio of Unsaturated to Saturated Non-Esterified Fatty Acids in Saliva from Patients with Cystic Fibrosis

scientific article published on 08 November 2020

Increased BDNF promoter methylation in the Wernicke area of suicide subjects.

scientific article published in March 2010

Isolated elevated sweat chloride concentrations in the presence of the rare mutation S1455X: an extremely mild form of CFTR dysfunction

scientific article published on 01 March 2005

Ledipasvir : a novel synthetic antiviral for the treatment of HCV infection

scientific article published on 04 March 2014

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.

scientific article

Liver expression in cystic fibrosis could be modulated by genetic factors different from the cystic fibrosis transmembrane regulator genotype

scientific article published on 01 February 2001

Low expression of human beta-defensin 1 in duodenum of celiac patients is partially restored by a gluten-free diet

scientific article published in April 2010

MK-5172 : a second-generation protease inhibitor for the treatment of hepatitis C virus infection.

scientific article

MTHFR C677T allelic variant is not associated with plasma and cerebrospinal fluid homocysteine in amyotrophic lateral sclerosis

Mannose-binding lectin genetic analysis: possible protective role of the HYPA haplotype in the development of recurrent urinary tract infections in men.

scientific article published on 7 December 2013

Molecular Epidemiology of Phenylalanine Hydroxylase Deficiency in Southern Italy: a 96% Detection Rate with Ten Novel Mutations

article

Molecular analysis and genotype-phenotype correlation in patients with antithrombin deficiency from Southern Italy

scientific article published on 08 March 2012

Molecular analysis of cluster headache.

scientific article published in January 2015

Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders

scientific article published on 5 March 2013

Molecular diagnosis of cystic fibrosis: comparison of four analytical procedures

scientific article

Multivariate discriminant analysis of biochemical parameters for the differentiation of clinically confounding liver diseases.

scientific article published on January 1997

Mutational spectrum of F8 gene and prothrombotic gene variants in haemophilia A patients from Southern Italy.

scientific article published on 30 April 2008

Omics in laboratory medicine

scientific article

Pediatric portal vein thrombosis: more on thrombophilic risk factors

scientific article published in June 2013

Per-rectal portal scintigraphy with technetium-99m pertechnetate for the early diagnosis of cirrhosis in patients with chronic hepatitis

scientific article published on 01 March 1992

Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype

scientific article published on 14 February 2006

Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation

scientific article published on 01 February 2005

Pre-analytical stability of the plasma proteomes based on the storage temperature

scientific article published on 21 March 2013

Prediction of acute pancreatitis risk based on PIP score in children with cystic fibrosis.

scientific article

Prenatal diagnosis of cystic fibrosis: an experience of 181 cases

scientific article

Prenatal diagnosis of haemophilia: our experience of 44 cases.

scientific article published in December 2013

Prenatal diagnosis of inherited diseases: 20 years' experience of an Italian Regional Reference Centre.

scientific article published in December 2013

Prenatal screening and counseling for genetic disorders

scientific article published on 01 October 2013

Prostate-specific antigen (protein and mRNA) analysis in the differential diagnosis and staging of prostate cancer

scientific article published in September 1997

Prothrombotic gene variants as risk factors of acute myocardial infarction in young women ⬇️

scientific article published on November 21, 2012

Quality assessment in cytogenetic and molecular genetic testing: the experience of the Italian Project on Standardisation and Quality Assurance

article

Reduced absorption and enhanced synthesis of cholesterol in patients with cystic fibrosis: a preliminary study of plasma sterols

scientific article

Serum type-2 macro-creatine kinase isoenzyme is not a useful marker of severe liver diseases or neoplasia

scientific article published on 01 December 1990

Severe liver impairment in a cystic fibrosis-affected child homozygous for the G542X mutation

scientific article published on March 1997

Telaprevir: a promising protease inhibitor for the treatment of hepatitis C virus infection.

scientific article published on January 2009

The Italian AICE-Genetics hemophilia A database: results and correlation with clinical phenotype

scientific article published on 2 April 2008

The Italian External Quality Control Programme for cystic fibrosis molecular diagnosis: 4 years of activity

scientific article published on January 2007

The Italian pilot external quality assessment program for cystic fibrosis sweat test

scientific article published on 3 February 2016

The expert in hemostasis and thrombosis in the Italian health system: role and requirements for a specific clinical and laboratory expertise

article

Three novel CFTR polymorphic repeats improve segregation analysis for cystic fibrosis.

scientific article

TrkB gene expression and DNA methylation state in Wernicke area does not associate with suicidal behavior

scientific article

Tropomyosin-related kinase B receptor polymorphisms and isoforms expression in suicide victims

scientific article published on 28 July 2014

Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene

scientific article published on 30 October 2018

Two novel genomic rearrangements identified in suicide subjects using a-CGH array

scientific article

What is the role of the non-coding regions of the CFTR gene in cystic fibrosis?

scientific article published in August 2013

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